Canonical Allele Identifier:
CA228571642
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112164265C>A , CM000673.2:g.112164265C>A | GRCh38 |
| NC_000011.9:g.112034988C>A , CM000673.1:g.112034988C>A | GRCh37 |
| NC_000011.8:g.111540198C>A | NCBI36 |
| NG_028143.1:g.4853G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525987.5:n.320-6154C>A | ||
| ENST00000531744.5:c.315-6154C>A | ENSP00000456957.1:n.315-6154C>A | |
| ENST00000532699.1:c.315-6154C>A | ENSP00000456434.1:n.315-6154C>A |